Linked Data
dbSNP Id:
rs201115066
ExAC:
3:183855793 T / G
gnomAD v2:
3-183855793-T-G
gnomAD v4:
3-184138005-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138005T>G , CM000665.2:g.184138005T>G | GRCh38 |
| NC_000003.11:g.183855793T>G , CM000665.1:g.183855793T>G | GRCh37 |
| NC_000003.10:g.185338487T>G | NCBI36 |
| NG_015826.1:g.7984T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.637T>G | ||
| ENST00000468748.7:n.597T>G | ||
| ENST00000484154.2:n.1235T>G | ||
| ENST00000491008.6:n.1362T>G | ||
| ENST00000492226.2:n.611T>G | ||
| ENST00000492773.6:c.346T>G | ||
| ENST00000647636.1:c.614T>G | ENSP00000497505.1:p.Val205Gly | |
| ENST00000647909.1:c.638T>G | ENSP00000498164.1:p.Val213Gly | |
| ENST00000648145.1:c.382T>G | ||
| ENST00000648189.1:c.364T>G | ||
| ENST00000648256.1:c.563T>G | ENSP00000497356.1:p.Val188Gly | |
| ENST00000648314.1:c.614T>G | ENSP00000496920.1:p.Val205Gly | |
| ENST00000648599.1:c.614T>G | ENSP00000497159.1:p.Val205Gly | |
| ENST00000648630.1:c.608T>G | ENSP00000497887.1:p.Val203Gly | |
| ENST00000648682.1:c.614T>G | ENSP00000498185.1:p.Val205Gly | |
| ENST00000648882.1:c.*440T>G | ENSP00000497603.1:n.*440T>G | |
| ENST00000648890.1:c.614T>G | ENSP00000497503.1:p.Val205Gly | |
| ENST00000648915.2:c.614T>G MANE Select | ENSP00000497160.1:p.Val205Gly | |
| ENST00000649545.1:c.348T>G | ||
| ENST00000649688.1:c.614T>G | ENSP00000497097.1:p.Val205Gly | |
| ENST00000649814.1:n.663T>G | ||
| ENST00000650270.1:c.481T>G | ||
| ENST00000273783.7:c.614T>G | ENSP00000273783.3:p.Val205Gly | |
| ENST00000432982.5:c.245+1330T>G | ||
| ENST00000444495.1:c.614T>G | ENSP00000409142.1:p.Val205Gly | |
| ENST00000468748.5:n.67T>G | ||
| ENST00000481054.5:n.615T>G | ||
| ENST00000491008.5:n.578T>G | ||
| ENST00000491144.5:n.1054T>G | ||
| ENST00000498831.1:n.569T>G | ||
| NM_003907.2:c.614T>G | NP_003898.2:p.Val205Gly | |
| XR_924208.1:n.1565T>G | ||
| NM_003907.3:c.614T>G MANE Select | NP_003898.2:p.Val205Gly | |
| XM_011513266.3:c.-288T>G | XP_011511568.1:n.-288T>G | |
| XR_001740352.2:n.977T>G | ||
| XR_001740353.2:n.977T>G | ||
| XR_924208.2:n.977T>G |